Literature DB >> 3930866

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.

M J Bennett, R G Gray, D M Isherwood, N Murphy, R J Pollitt.   

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Year:  1985        PMID： 3930866     DOI： 10.1007/bf01811496

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

Authors:  D M Turnbull; K Bartlett; D L Stevens; K G Alberti; G J Gibson; M A Johnson; A J McCulloch; H S Sherratt
Journal:  N Engl J Med       Date:  1984-11-08       Impact factor: 91.245

2.  Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.

Authors:  S Mantagos; M Genel; K Tanaka
Journal:  J Clin Invest       Date:  1979-12       Impact factor: 14.808

3.  Riboflavin-responsive ethylmalonic-adipic aciduria.

Authors:  A Green; T G Marshall; M J Bennett; R G Gray; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.

Authors:  M J Bennett; D A Curnock; P C Engel; L Shaw; R G Gray; D Hull; A D Patrick; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
  4 in total
  12 in total

1.  Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Authors:  Magalie Barth; Chris Ottolenghi; Laurence Hubert; Dominique Chrétien; Valérie Serre; Stéphanie Gobin; Stéphane Romano; Anne Vassault; Aziz Sefiani; Daniel Ricquier; Nathalie Boddaert; Michèle Brivet; Yves de Keyzer; Arnold Munnich; Marinus Duran; Daniel Rabier; Vassili Valayannopoulos; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

2.  Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

Authors:  G F Hoffmann; D H Hunneman; C Jakobs; E Wilichowski; S W Eber; F Hanefeld; D Rating; H Reichmann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels.

Authors:  A Federico; G Baracchini; M T Dotti; L Ibba; A Malandrini; G Ciacci; M Meloni; S Palmeri; A Pompella; G C Guazzi
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Authors:  P M Coates; D E Hale; G Finocchiaro; K Tanaka; S C Winter
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

5.  Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice.

Authors:  S P Schiffer; M Prochazka; P F Jezyk; T H Roderick; M Yudkoff; D F Patterson
Journal:  Biochem Genet       Date:  1989-02       Impact factor: 1.890

6.  A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.

Authors:  A C Sewell; J Herwig; H Böhles; P Rinaldo; A Bhala; D E Hale
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183

Review 7.  The inborn errors of mitochondrial fatty acid oxidation.

Authors:  C Vianey-Liaud; P Divry; N Gregersen; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 8.  Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenichiro Shirao; Satoshi Okada; Go Tajima; Miyuki Tsumura; Keiichi Hara; Shin'ichiro Yasunaga; Motoaki Ohtsubo; Ikue Hata; Nobuo Sakura; Yosuke Shigematsu; Yoshihiro Takihara; Masao Kobayashi
Journal:  Hum Genet       Date:  2010-04-08       Impact factor: 4.132

Review 9.  Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

10.  Mitochondrial fatty acid oxidation defects--remaining challenges.

Authors:  Niels Gregersen; Brage S Andresen; Christina B Pedersen; Rikke K J Olsen; Thomas J Corydon; Peter Bross
Journal:  J Inherit Metab Dis       Date:  2008-10-07       Impact factor: 4.982
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